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ONTOLOGY REPORT - ANNOTATIONS


Term:Moyamoya disease
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Accession:DOID:13099 term browser browse the term
Definition:A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
Synonyms:exact_synonym: MYMY;   Moya Moya disease;   Moyamoya Syndrome;   Primary Moyamoya Disease;   cerebrovascular Moyamoya disease;   classic Moyamoya disease;   primary Moyamoya diseases;   progressive intracranial arterial occlusion;   progressive intracranial occlusive arteropathy (Moyamoya);   secondary Moyamoya disease
 primary_id: MESH:D009072
 alt_id: RDO:0002727
 xref: GARD:7064;   ICD10CM:I67.5;   ICD9CM:437.5;   NCI:C84895;   OMIM:PS252350;   ORDO:2573;   ORDO:280679;   ORDO:401945
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Moyamoya disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link NW_004936735 266,918 283,858 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link NW_004936576 2,353,874 2,411,747 RGD:9068941
G Rnf213 ring finger protein 213 JBrowse link NW_004936594 4,241,006 4,331,841 RGD:9068941
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link NW_004936594 3,232,433 3,244,241 RGD:9068941
Moyamoya Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link NW_004936576 2,353,874 2,411,747 RGD:9068941
Moyamoya Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf213 ring finger protein 213 JBrowse link NW_004936594 4,241,006 4,331,841 RGD:7240710
RGD:9068941
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcap31 B cell receptor associated protein 31 JBrowse link NW_004936809 582,689 614,800 RGD:9068941
G Slc6a8 solute carrier family 6 member 8 JBrowse link NW_004936809 571,234 578,298 RGD:9068941
Moyamoya Disease 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link NW_004936735 266,918 283,858 RGD:7240710
RGD:9068941
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link NW_004936576 2,353,874 2,411,747 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11544
    disease of anatomical entity 11219
      cardiovascular system disease 3043
        vascular disease 2203
          Arterial Occlusive Diseases 556
            Moyamoya disease 7
              Moyamoya Disease 1 1
              Moyamoya Disease 2 1
              Moyamoya Disease 3 0
              Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
              Moyamoya Disease 5 1
              Moyamoya Disease 6 with Achalasia 1
Path 2
Term Annotations click to browse term
  disease 11544
    disease of anatomical entity 11219
      nervous system disease 9078
        central nervous system disease 7576
          brain disease 6994
            cerebrovascular disease 729
              intracranial arterial disease 227
                cerebral arterial disease 184
                  Moyamoya disease 7
                    Moyamoya Disease 1 1
                    Moyamoya Disease 2 1
                    Moyamoya Disease 3 0
                    Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
                    Moyamoya Disease 5 1
                    Moyamoya Disease 6 with Achalasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.